Canonical Allele Identifier: CA2697559540

Gene: NF1

Linked Data

• ClinVar Variation Id: 2682667
• ClinVar RCV Id: RCV003481534

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265316_31265318delinsA , CM000679.2:g.31265316_31265318delinsA	GRCh38
NC_000017.10:g.29592334_29592336delinsA , CM000679.1:g.29592334_29592336delinsA	GRCh37
NC_000017.9:g.26616460_26616462delinsA	NCBI36
NG_009018.1:g.175340_175342delinsA , LRG_214:g.175340_175342delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.614_616delinsA	ENSP00000492721.2:n.614_616delinsA
ENST00000696138.1:c.4794_4796delinsA	ENSP00000512431.1:p.Ile1599PhefsTer16
ENST00000696140.1:n.918_920delinsA
ENST00000696141.1:c.803_805delinsA
ENST00000687863.1:n.1457_1459delinsA
ENST00000691014.1:c.4842_4844delinsA	ENSP00000510595.1:p.Ile1615PhefsTer16
ENST00000358273.9:c.4812_4814delinsA MANE Select	ENSP00000351015.4:p.Ile1605PhefsTer16
ENST00000356175.7:c.4749_4751delinsA	ENSP00000348498.3:p.Ile1584PhefsTer16
ENST00000358273.8:c.4812_4814delinsA	ENSP00000351015.4:p.Ile1605PhefsTer16
ENST00000456735.6:c.3747_3749delinsA	ENSP00000389907.2:p.Ile1250PhefsTer16
ENST00000493220.5:n.3285_3287delinsA
ENST00000579081.5:c.4851_4853delinsA	ENSP00000462408.1:p.Ile1618PhefsTer25
NM_000267.3:c.4749_4751delinsA , LRG_214t1:c.4749_4751delinsA	NP_000258.1:p.Ile1584PhefsTer16
NM_001042492.2:c.4812_4814delinsA , LRG_214t2:c.4812_4814delinsA	NP_001035957.1:p.Ile1605PhefsTer16
XM_005257983.1:c.4812_4814delinsA	XP_005258040.1:p.Ile1605PhefsTer16
XM_005257984.1:c.4749_4751delinsA	XP_005258041.1:p.Ile1584PhefsTer16
XM_006721922.1:c.4842_4844delinsA	XP_006721985.1:p.Ile1615PhefsTer16
XM_006721923.2:c.4803_4805delinsA	XP_006721986.1:p.Ile1602PhefsTer16
XM_006721924.1:c.4842_4844delinsA	XP_006721987.1:p.Ile1615PhefsTer16
XM_006721925.1:c.4779_4781delinsA	XP_006721988.1:p.Ile1594PhefsTer16
XM_006721926.2:c.4842_4844delinsA	XP_006721989.1:p.Ile1615PhefsTer16
XM_006721927.1:c.4842_4844delinsA	XP_006721990.1:p.Ile1615PhefsTer16
XM_006721928.2:c.4842_4844delinsA	XP_006721991.1:p.Ile1615PhefsTer?
XM_011524852.1:c.4839_4841delinsA	XP_011523154.1:p.Ile1614PhefsTer16
XM_011524853.1:c.4803_4805delinsA	XP_011523155.1:p.Ile1602PhefsTer16
XM_011524854.1:c.4803_4805delinsA	XP_011523156.1:p.Ile1602PhefsTer16
XM_011524855.1:c.4803_4805delinsA	XP_011523157.1:p.Ile1602PhefsTer16
XM_011524856.1:c.4803_4805delinsA	XP_011523158.1:p.Ile1602PhefsTer16
XM_011524857.1:c.4842_4844delinsA	XP_011523159.1:p.Ile1615PhefsTer16
NM_001042492.3:c.4812_4814delinsA MANE Select	NP_001035957.1:p.Ile1605PhefsTer16